Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P316 Ataxias probemix - 100 reactions

SALSA MLPA P316 Ataxias probemix - 100 reactions

SALSA MLPA P316 Ataxias probemix - 100 reactions

Recessive Ataxias.

region: SETX, APTX, FXN. Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P316-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P316 Ataxias probemix - 100 reactions

P316-025R SALSA MLPA P316 Recessive Ataxias probemix – 100 rxn

description
Ataxia-oculomotor apraxia-2 (AOA2, also referred to as autosomal recessive spinocerebellar ataxia-1) has been associated with mutations in the SETX gene. AOA2 is allelic with ALS4, a motor neuron disorder of early onset and autosomal dominant inheritance. The SETX gene (26 exons) spans ~94 kb of genomic DNA and is located on chromosome 9q34.13, ~134 Mb from the p-telomere.

Ataxia-oculomotor apraxia 1 (AOA1) has been associated with mutations in the APTX gene. The APTX gene (9 exons) spans ~29 kb of genomic DNA and is located on chromosome 9p13.3, ~33 Mb from the p-telomere.

Mutations in the FXN gene are involved in Friedreich’s ataxia. The FXN gene (6 exons) spans ~65 kb of genomic DNA and is located on chromosome 9q13, ~70.9 Mb from the p-telomere. Please note that the major cause of Friedreich’s ataxia is an expansion of an intronic trinucleotide repeat, which cannot be detected with this P316-B2 Recessive Ataxias probemix.

The P316-B2 probemix contains probes for each exon of the APTX and SETX genes and for 5 out of 6 FXN exons. In addition, 9 reference probes are included in this probemix, detecting different autosomal chromosomal locations.

This SALSA® MLPA® kit is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in these genes are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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